title: Polymorphisms in the DLG3 gene is not associated with non-syndromic mental retardation in the Chinese Han population of Qin-Ba mountain.
abstract: Discs-large-related 3 (DLG3), a member of the membrane-associated guanylate kinases (MAGUKs) protein family, playing an important role in regulating NMDA signal pathway and contributing to synaptic plasticity, may have an influence on the susceptibility of non-syndromic mental retardation (NSMR). To investigate the possible genetic contribution of DLG3 gene to the NSMR of Chinese Han population, we performed an association study of 556 subjects (118 NSMR, 116 borderline NSMR, and 322 controls in 275 males and 281 females) from Qin-Ba mountain region of Shaanxi province in the northwest of China by five common SNPs in the gene. The results showed that there was no positive association between the genetic variations of DLG3 and NSMR. In conclusion, the results of this study indicated that DLG3 did not associate with NSMR in Chinese Han population; however, further studies are needed.
authors.affiliation: Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, Institute of Population and Health, College of Life Science, Northwest University, People's Republic of China.
authors.forename: Ning
authors.initials: N
authors.lastname: Han
authors.forename: Zhangyan
authors.initials: Z
authors.lastname: Shi
authors.forename: Kejin
authors.initials: K
authors.lastname: Zhang
authors.forename: Xiaocai
authors.initials: X
authors.lastname: Gao
authors.forename: Zijian
authors.initials: Z
authors.lastname: Zheng
authors.forename: Pingyuan
authors.initials: P
authors.lastname: Gong
authors.forename: Yale
authors.initials: Y
authors.lastname: Guo
authors.forename: Shaoping
authors.initials: S
authors.lastname: Huang
authors.forename: Fuchang
authors.initials: F
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D017753:Ecosystem; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C116869:DLG3 protein, human; D009687:Nuclear Proteins; D014157:Transcription Factors